Year 2011 / Volume 103 / Number 7
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Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis

pp. 379-382

Alejandro del Castillo Rueda, Nuria Cuadrado Grande, Emilio Álvarez Fernández, Rafael Enríquez de Salamanca, Luis Antonio Álvarez Sala y María Josefa Morán Jiménez

Abstract
Iron overload disease has a wide variety of genotypes. The genetic study of this disease confirms its hereditary nature and enables us
to provide genetic counseling for first-degree relatives. We performed magnetic resonance imaging and liver biopsy in an asymptomatic
patient with more than 1,000 µg/L of serum ferritin and studied the genes involved in this condition. The phenotype of iron overload
is confirmed by a predominantly periportal pattern of iron deposits in the liver suggestive of genetic disease. In the case we present the molecular study revealed a double heterozygosity for the mutations c.187C>G (p.H63D) and c.840C>G (p.F280L) in the HFE and transferrin receptor 2 (TFR2) genes, respectively.
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Alejandro del Castillo Rueda, Nuria Cuadrado Grande, Emilio Álvarez Fernández, Rafael Enríquez de Salamanca, Luis Antonio Álvarez Sala y María Josefa Morán Jiménez. Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis. 379-382


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